Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
pontocerebellar hypoplasia	MONDO_0020135	[Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.]
Abnormal dental enamel morphology	HP_0000682	[An abnormality of the dental enamel.]
microcephaly-cleft palate syndrome	MONDO_0016750	[Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.]
Delayed eruption of primary teeth	HP_0000680	[Delayed tooth eruption affecting the primary dentition.]
benign peripheral nerve sheath tumor	MONDO_0016752
Exercise-induced muscle fatigue	HP_0009020	[An abnormally increased tendency towards muscle fatigue induced by physical exercise.]
malignant exocrine pancreas neoplasm	MONDO_0002116	[A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.]
pancreatic exocrine neoplasm	MONDO_0021076	[A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.]
Reduced ejection fraction	HP_0012664	[A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.]
Pachycladon cheesemanii	NCBITaxon_106773
Dental malocclusion	HP_0000689	[Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.]
mitotic spindle organization	GO_0007052	[ A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. ]
spindle organization	GO_0007051	[ A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart. ]
mitotic cell cycle	GO_0000278	[Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.]
microtubule cytoskeleton organization	GO_0000226	[ A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. ]
cell cycle process	GO_0022402	[ The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. ]
obsolete_pseudohypoaldosteronism type 2E	Orphanet_300530
obsolete NGLY1-deficiency	MONDO_0014109
isolated anophthalmia-microphthalmia syndrome	MONDO_0016764	[Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.]
non-syndromic developmental defect of the eye	MONDO_0015217	[A developmental defect of the eye that is not part of a larger syndrome.]